Works matching IS 10597794 AND DT 2020 AND VI 41 AND IP 9

Results: 23
    1
    2

    Cover, Volume 41, Issue 8.

    Published in:
    Human Mutation, 2020, v. 41, n. 9, p. ii, doi. 10.1002/humu.24099
    By:
    • Reeves, Melissa J.;
    • Goetz, Kerry E.;
    • Guan, Bin;
    • Ullah, Ehsan;
    • Blain, Delphine;
    • Zein, Wadih M.;
    • Tumminia, Santa J.;
    • Hufnagel, Robert B.
    Publication type:
    Article
    3

    Cover, Volume 41, Issue 9.

    Published in:
    Human Mutation, 2020, v. 41, n. 9, p. i, doi. 10.1002/humu.24098
    By:
    • Xiang, Jiale;
    • Peng, Jiguang;
    • Baxter, Samantha;
    • Peng, Zhiyu
    Publication type:
    Article
    4
    5
    6

    Biallelic loss‐of‐function variants in TBC1D2B cause a neurodevelopmental disorder with seizures and gingival overgrowth.

    Published in:
    Human Mutation, 2020, v. 41, n. 9, p. 1645, doi. 10.1002/humu.24071
    By:
    • Harms, Frederike L.;
    • Parthasarathy, Padmini;
    • Zorndt, Dennis;
    • Alawi, Malik;
    • Fuchs, Sigrid;
    • Halliday, Benjamin J.;
    • McKeown, Colina;
    • Sampaio, Hugo;
    • Radhakrishnan, Natasha;
    • Radhakrishnan, Suresh K.;
    • Gorce, Magali;
    • Navet, Benjamin;
    • Ziegler, Alban;
    • Sachdev, Rani;
    • Robertson, Stephen P.;
    • Nampoothiri, Sheela;
    • Kutsche, Kerstin
    Publication type:
    Article
    7

    Mandibular‐pelvic‐patellar syndrome is a novel PITX1‐related disorder due to alteration of PITX1 transactivation ability.

    Published in:
    Human Mutation, 2020, v. 41, n. 9, p. 1499, doi. 10.1002/humu.24070
    By:
    • Morel, Godelieve;
    • Duhamel, Céline;
    • Boussion, Simon;
    • Frénois, Frédéric;
    • Lesca, Gaetan;
    • Chatron, Nicolas;
    • Labalme, Audrey;
    • Sanlaville, Damien;
    • Edery, Patrick;
    • Thevenon, Julien;
    • Faivre, Laurence;
    • Fassier, Alice;
    • Prodhomme, Olivier;
    • Escande, Fabienne;
    • Manouvrier, Sylvie;
    • Petit, Florence;
    • Geneviève, David;
    • Rossi, Massimiliano
    Publication type:
    Article
    8

    Expanding the genotypic and phenotypic spectrum of severe serine biosynthesis disorders.

    Published in:
    Human Mutation, 2020, v. 41, n. 9, p. 1615, doi. 10.1002/humu.24067
    By:
    • Abdelfattah, Fatima;
    • Kariminejad, Ariana;
    • Kahlert, Anne‐Karin;
    • Morrison, Patrick J.;
    • Gumus, Evren;
    • Mathews, Katherine D.;
    • Darbro, Benjamin W.;
    • Amor, David J.;
    • Walsh, Maie;
    • Sznajer, Yves;
    • Weiß, Luisa;
    • Weidensee, Sabine;
    • Chitayat, David;
    • Shannon, Patrick;
    • Bermejo‐Sánchez, Eva;
    • Riaño‐Galán, Isolina;
    • Hayes, Ian;
    • Poke, Gemma;
    • Rooryck, Caroline;
    • Pennamen, Perrine
    Publication type:
    Article
    9
    10
    11

    An assessment of the role of vinculin loss of function variants in inherited cardiomyopathy.

    Published in:
    Human Mutation, 2020, v. 41, n. 9, p. 1577, doi. 10.1002/humu.24061
    By:
    • Hawley, Megan H.;
    • Almontashiri, Naif;
    • Biesecker, Leslie G.;
    • Berger, Natalie;
    • Chung, Wendy K.;
    • Garcia, John;
    • Grebe, Theresa A.;
    • Kelly, Melissa A.;
    • Lebo, Matthew S.;
    • Macaya, Daniela;
    • Mei, Hui;
    • Platt, Julia;
    • Richard, Gabi;
    • Ryan, Ashley;
    • Thomson, Kate L.;
    • Vatta, Matteo;
    • Walsh, Roddy;
    • Ware, James S.;
    • Wheeler, Matthew;
    • Zouk, Hana
    Publication type:
    Article
    12
    13
    14
    15
    16
    17

    Issue Information.

    Published in:
    Human Mutation, 2020, v. 41, n. 9, p. 1465, doi. 10.1002/humu.23813
    Publication type:
    Article
    18
    19

    ASAH1 pathogenic variants associated with acid ceramidase deficiency: Farber disease and spinal muscular atrophy with progressive myoclonic epilepsy.

    Published in:
    Human Mutation, 2020, v. 41, n. 9, p. 1469, doi. 10.1002/humu.24056
    By:
    • Elsea, Sarah H.;
    • Solyom, Alexander;
    • Martin, Kirt;
    • Harmatz, Paul;
    • Mitchell, John;
    • Lampe, Christina;
    • Grant, Christina;
    • Selim, Laila;
    • Mungan, Neslihan Oneli;
    • Guelbert, Norberto;
    • Magnusson, Bo;
    • Sundberg, Erik;
    • Puri, Ratna;
    • Kapoor, Seema;
    • Arslan, Nur;
    • DiRocco, Maja;
    • Zaki, Maha;
    • Ozen, Seza;
    • Mahmoud, Iman G.;
    • Ehlert, Karoline
    Publication type:
    Article
    20
    21
    22

    Suggested application of HER2+ breast tumor phenotype for germline TP53 variant classification within ACMG/AMP guidelines.

    Published in:
    Human Mutation, 2020, v. 41, n. 9, p. 1555, doi. 10.1002/humu.24060
    By:
    • Fortuno, Cristina;
    • Mester, Jessica;
    • Pesaran, Tina;
    • Weitzel, Jeffrey N.;
    • Dolinsky, Jill;
    • Yussuf, Amal;
    • McGoldrick, Kelly;
    • Garber, Judy E.;
    • Savage, Sharon A.;
    • Khincha, Payal P.;
    • Gareth Evans, D.;
    • Achatz, Maria Isabel;
    • Nichols, Kim E.;
    • Maxwell, Kara N.;
    • Schiffman, Joshua D.;
    • Sandoval, Renata;
    • James, Paul A.;
    • Spurdle, Amanda B.
    Publication type:
    Article
    23